Holocarboxylase Synthetase Deficiency (HLCS DEFICIENCY)

Alias:

Early-Onset Multiple Carboxylase Deficiency

Hlcs Deficiency

Neonatal Multiple Carboxylase Deficiency

Biotin- Ligase Deficiency

Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency

Biotin-Responsive Multiple Carboxylase Deficiency

Multiple Carboxylase Deficiency - Neonatal Onset

Multiple Carboxylase Deficiency, Neonatal Form

Multiple Carboxylase Deficiency, Early Onset

Early-Onset Combined Carboxylase Deficiency

Infantile Multiple Carboxylase Deficiency

Biotin-Responsive Mcd

Mcd Neonatal Form

Early-Onset Mcd

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Holocarboxylase Synthetase Deficiency, also known as early-onset multiple carboxylase deficiency, is related to multiple carboxylase deficiency and metabolic acidosis, and has symptoms including exanthema, lethargy and seizures. An important gene associated with Holocarboxylase Synthetase Deficiency is HLCS (Holocarboxylase Synthetase), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include skin and liver, and related phenotypes are seizure and nausea and vomiting

Related ID：

MALACARDS：HLC001

OMIM：253270

MESH：D028922